Oral-facial-digital syndrome type I (OFDSI) is a multiple anomaly syndrome inherited as an X-linked dominant trait.  OFDS1 is caused by defects in the OFD1 gene, which maps to Xp22.2.  Almost all affected individuals are female, since the condition is almost always prenatally lethal in males.  Common manifestations, as the name of the condition implies, affect the face, mouth, and digits.  Facial manifestations include apparent hypertelorism, underdeveloped alae nasi, and micrognathia.   Oral findings include accessory frenulae (webs in the mouth), abnormal lobation or benign tumor

The University of Chicago provides testing of the ZEB2 gene for Mowat-Wilson syndrome.  MowatWilson.org is an organization established by one family to help others with this diagnosis.  Here is an article by their founders, Dave and Deby Curry, that introduces you to their grandson and their organization:

Note that some of our prices will be increasing effective March 1, 2012.  Please refer to our current paperwork and website for accurate pricing.

In 2002, my husband and I were blessed with our third child.  As the first months went by, we noticed our son, Brandon, wasn’t progressing normally.  When he was five months old, he had difficulty holding his head up and was not able to sit on his own.  Our worst fears were confirmed when Brandon was diagnosed with an extremely rare genetic disorder.  I left the physician’s office that day feeling so alone and wondering; what the future holds for my child?

Wilson disease (WD) is a rare genetic disorder of copper metabolism that affects 1 in 30,000 people worldwide.  Mutations in the ATP7B gene on chromosome 13 prevent copper from being properly excreted from the body.  This results in the accumulation of copper in the liver, brain, and other organs. WD is always fatal unless it is diagnosed and treated before serious symptoms develop.

The centronuclear myopathies (CNM) are a rare group of hereditary neuromuscular diseases that are both clinically and genetically heterogeneous.  Although most patients present with muscle weakness and low muscle tone, onset of symptoms and severity ranges from neonatal onset of severe weakness requiring respiratory and feeding intervention to onset of mild weakness in adulthood requiring assistance with mobility.   The clinical presentation can appear similar to congenital or limb girdle muscular dystrophy, but the creatine kinase level is generally not elevated and muscle biopsies do not

Our laboratory performs full gene sequencing of MLL2 for Kabuki syndrome.  The Kabuki Syndrome Network (KSN) is a support group for patients and families with Kabuki syndrome.  Like many support groups, the inception of Kabuki Syndrome Network (KSN) was born out of the need to contact parents with similar challenges.  When our daughter was diagnosed in 1994, Kabuki was still a newly described syndrome.  Not only were support groups nonexistent, personal home computers were still in their infancy. 

Come visit our exhibit at the following upcoming conferences:

October 11-15 at the ASHG 61st Annual Meeting in Montreal Exhibitor Booth #1002

October 27-30 at the NSGC Annual Education Conference in San Diego, CA Exhibitor Booth #511

The genetic diagnosis of non-syndromic neurological disease presents unique challenges to clinicians and diagnostic labs: recognizable phenotypes are genetically heterogeneous with many dozens of genes causally implicated, mutations in each gene only explain a negligible percentage of patient cases, and a complex and rapidly developing literature requires constant re-evaluation of the diagnostic strategy.    We are pursuing a highly multiplexed approach to the diagnosis of non-syndromic intellectual disability, developmental delay and brain malformations and are evaluating three different e